A program of research in respiratory and cardiovascular genetic epidemiology

在英国，慢性阻塞性肺病和高血压影响了很大比例的成年人。该项目涉及来自英国和国际中心的合作者，旨在确定这些疾病的遗传原因。通过比较数以万计的个体研究参与者在人类基因组数百万个不同位点上的肺功能变异，我们可以确定与肺部疾病相关的变异。我们将更详细地研究这些变异的影响，检查它们对肺生长的影响，对随年龄或疾病而下降的肺功能的影响，对吸烟的影响以及对治疗的反应。将对血压进行类似的发现和后续研究。我们还可以利用已确定的遗传变异来告诉我们更多关于可改变的非遗传对疾病的影响，例如饮食中叶酸缺乏是否会导致高血压。在大多数情况下，我们并不期望这些变异能够准确地预测个体患病的风险，但我们确实希望鉴定出的基因能够提供关于疾病是如何引起的重要线索，并促进我们对如何更有效地预防和治疗疾病的理解。

Chronic obstructive pulmonary disease and high blood pressure affect a high proportion of adults in the UK. This program, involving collaborators from several UK and international centres, aims to identify the genetic causes of these disorders. By comparing measures of lung function in tens of thousands of individual study participants for variants at each of millions of different sites across the human genome, we can identify variants associated with lung disease. We will study the impact of these variants in more detail, examining their effect on lung growth, on decline in lung function with age or with disease, on effects of smoking and on response to treatment. Similar discovery and follow-up studies will be undertaken for blood pressure. We can also use the identified genetic variants to tell us more about modifiable non-genetic influences on disease, such as whether dietary deficiency in folate causes high blood pressure. In most cases, we do not expect these variants to accurately predict an individual‘s risk of developing disease, but we do expect the genes identified to give important clues about how the diseases are caused and advance our understanding of how they might be more effectively prevented and treated.